Background: Cystinosis is a rare autosomal recessive lysosomal storage disease with high morbidity and mortality. It is caused by mutations in the CTNS gene that encodes the cystine transporter, cystinosin, which leads to lysosomal cystine accumulation. It is the major cause of inherited Fanconi syndrome, and should be suspected in young children with failure to thrive and signs of renal proximal tubular damage. The diagnosis can be missed in infants, because not all signs of renal Fanconi syndrome are present during the first months of life. Elevated white blood cell cystine content is the cornerstone of the diagnosis. Since chitotriosidase (CHIT1 or chitinase-1) is mainly produced by activated macrophages both in normal and inflammatory conditions which suggest that cystinosis should be included within the differential diagnosis of disorders associated with increased plasma chitotriosidase activity. This study is aimed to estimate serum chitotriosidase level, as a screening marker and therapeutic monitor for cystinosis disease in Iraqi children with cystinosis.
Subjects and Methods: The present study is a case-control study that included samples of 30 children with nephropathic cystinosis, compared to 25 healthy control children from those attending at The Genetic Rare Diseases Center / AL-Emamain AL-Kadhimain Teaching Hospital, Baghdad-Iraq.
Results: Our results reported that cystinotic children had a marked elevation of serum chitotriosidase activity, compared to age-matched healthy children, besides a significant associated with leukocyte-cystine content for cystinotic patients.
CHT1 as a Novel Biomarker
Conclusion: Estimation of serum chitotriosidase activity might aid in monitoring the therapeutic benefits of cysteamine therapy, as well as the prognosis of the disease when WBC cystine assessment is not available.
Key Words: Cystinosis, Cysteamine, Chitotriosidase.
There are many images you need to large Khoznah space With the continued evolution of storage technology for computers, there is a need nailed required to reduce Alkhoznip space for pictures and image compression in a good way, the conversion method Alamueja
Introduction: In recent decades, the endovascular treatment of cerebral arteriovenous malformations (AVMs) has advanced. However, it still carries risks of unanticipated complications. Coil migration is a reported complication of aneurysmal coiling procedures. Herein, we report a case of early intraprocedural coil migration during pressure cooker technique embolization of right thalamic AVM, discussing the management and potential explanations. The literature showed no report of coil migration after the pressure cooker technique in the form of coil-augmented Onyx injection technique (CAIT). Case description: An otherwise healthy 26-year-old female suddenly developed a severe headache with no loss of consciousness. Computed tomograp
... Show MoreAbstract: Data mining is become very important at the present time, especially with the increase in the area of information it's became huge, so it was necessary to use data mining to contain them and using them, one of the data mining techniques are association rules here using the Pattern Growth method kind enhancer for the apriori. The pattern growth method depends on fp-tree structure, this paper presents modify of fp-tree algorithm called HFMFFP-Growth by divided dataset and for each part take most frequent item in fp-tree so final nodes for conditional tree less than the original fp-tree. And less memory space and time.
Surface modeling utilizing Bezier technique is one of the more important tool in computer aided geometric design (CAD). The aim of this work is to design and implement multi-patches Bezier free-form surface. The technique has an effective contribution in technology domains and in ships, aircrafts, and cars industry, moreover for its wide utilization in making the molds. This work is includes the synthesis of these patches in a method that is allow the participation of these control point for the merge of the patches, and the confluence of patches at similar degree sides due to degree variation per patch. The model has been implemented to represent the surface. The interior data of the desired surfaces designed by M
... Show MoreIn this article, a new efficient approach is presented to solve a type of partial differential equations, such (2+1)-dimensional differential equations non-linear, and nonhomogeneous. The procedure of the new approach is suggested to solve important types of differential equations and get accurate analytic solutions i.e., exact solutions. The effectiveness of the suggested approach based on its properties compared with other approaches has been used to solve this type of differential equations such as the Adomain decomposition method, homotopy perturbation method, homotopy analysis method, and variation iteration method. The advantage of the present method has been illustrated by some examples.
Abstract:
Objectives: This study aims to (1) find out the association between patients' age, years of getting the disease, and their spiritual coping ability, and (2) investigate the differences in illness perception and spiritual coping ability between gender groups, level of education groups, monthly income groups, residence groups and satisfaction with health services groups.
Methodology
A descriptive correlational design is used in this study. The study sample includes a convenience sample of (158) patients with chronic kidney failure.
The study instrument consists of two parts; the first one focuses on participants’ sociodemographic characteristics, and the second part deals with participants’ spiritual coping by us
Remote surveying of unknown bound geometries, such as the mapping of underground water supplies and tunnels, remains a challenging task. The obstacles and absorption in media make the long-distance telecommunication and localization process inefficient due to mobile sensors’ power limitations. This work develops a new short-range sequential localization approach to reduce the required amount of signal transmission power. The developed algorithm is based on a sequential localization process that can utilize a multitude of randomly distributed wireless sensors while only employing several anchors in the process. Time delay elliptic and frequency range techniques are employed in developing the proposed algebraic closed-form solution.
... Show MoreImitation learning is an effective method for training an autonomous agent to accomplish a task by imitating expert behaviors in their demonstrations. However, traditional imitation learning methods require a large number of expert demonstrations in order to learn a complex behavior. Such a disadvantage has limited the potential of imitation learning in complex tasks where the expert demonstrations are not sufficient. In order to address the problem, we propose a Generative Adversarial Network-based model which is designed to learn optimal policies using only a single demonstration. The proposed model is evaluated on two simulated tasks in comparison with other methods. The results show that our proposed model is capable of completing co
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